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Genetic counseling: Frontonasal Dysplasia - Median Cleft Face Syndrome
Frontonasal Dysplasia - Median Cleft Face Syndrome Contracting *How have things been going since your last visit? *What questions or concerns would you like to address today? Interim History *Which physicians are you seeing? When are your follow-up appointments scheduled? *Recent tests: video swallowing study, audiologic evaluation, O2 saturation studies? *How have things been going since the cleft palate repair? Any complications? Current feeding issues? *Developmental assessment questions **Rolling over? **Sitting when supported? **Pincher grasp? Reaching for objects? **Babbling? Any consonant sounds? Words? *Are you satisfied with OT/PT services? Have you noticed improvements? Psychosocial Assessment *Who lives in the home with you? *Are you working outside the home? Who cares for him when you are at work? *Do you have any help with his care? Do you feel like you need help? *Do you have support from family and friends? *What is most concerning for you? *Do you have any pets? Air conditioning (concern because of trach)? *Possible psychosocial issues: **Burden of caring for a child with complicated medical history **Disruption of family, lifestyle **Guilt, shock, denial, anger, fear about diagnosis **Social stigma, poor self-esteem for child with disfiguring condition General Overview of Condition *Rare condition in which the midface does not develop normally **Affects the head and face **May cause widely spaced eyes, a flat broad nose, and a vertical groove in middle of face *Cause is not known but can be sporadic or familial Etiology *Anomalies explained by single malformation **Nasal capsule fails to develop properly causing disruption in the positioning in the eyes and lack of formation of nasal tip **Considered nonspecific developmental field defect *Most cases sporadic **Some reports of familial aggregation but may be misdiagnosis **Reported in dup(2q) syndrome *Can occur as one feature in multiple malformation syndrome with recurrence risk is for syndrome Clinical Features *Variability in severity of expression *Eyes **Hypertelorism **Lateral displacement of inner canthi *Forehead **Widown's peak **Defect in midline frontal bone (cranium bifidum occultum) *Nose **Varies from notched broad nasal tip, divided nostrils with hypoplasia, absence of prolabium and premaxilla with cleft lip **Broad nasal root **Lack of formation of nasal tip *Occassional abnormalities **Accessory nasal tags **Anomalies of optic disk, optic nerve, retina, or eye (colobomas, cataracts) **Preauricular tags, low-set ears **Conductive deafness **Mental deficiency (8-20%) ***Seems to be more severe when extracephalic anomalies occur or when hypertelorism is very severe ***Probability low if features above are not as sever **Frontal cutaneous lipoma or lipoma of corpus callosum **Agenesis of corpus collosum **Anterior basal encephalocele **Tetralogy of Fallot **Cleft lip and/or cleft palate *Usually requires radical cosmetic surgery to repair *Natural history and lifespan depend on severity and complications but usually not significantly different from expected Differential Diagnosis *Oculo-auricular-vertebral spectrum *Frontofacionasal dysostosis - autosomal recessive inheritance *Craniofrontonasal dysplasia Resources *Children's Craniofacial Association (CCA) :Phone: (800) 535-3643 :Email: contactcca@ccakids.com :Internet: http://www.ccakids.com *FACES: The National Craniofacial Association :Phone: (800) 332-2373 :Email: faces@faces-cranio.org :Internet: http://www.faces-cranio.org *AboutFace U.S.A. :Phone: (888) 486-1209 :Email: AboutFace2000@aol.com :Internet: http://www.aboutface2000.org References *"Frontonasal Dysplasia." National Organization for Rare Disorders. http://www.rarediseases.org *Gorlin RJ, Cohen MM, and Levin SL. "Syndromes with Unusual Facies." Syndromes of the Head and Neck. Oxford University Press (1990):785-788. *Jones, KL. "Frontonasal Dysplasia Sequence." Smith's Recognizable Patterns of Human Malformation. W.B. Saunders Company (1980): 240-242. Notes The information in this outline was last updated in 2002. This material has been imported fom the wikibook "Genetic counseling"[ http://en.wikibooks.org/wiki/Genetic_counseling] under the GNU Free Documentation License.